A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3140456



Internal ID10813436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:5501838..5502414hg38UCSC Ensembl
Outerchr18:5501837..5502413hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38577
hg19577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7410023
SamplesHuRef
Known GenesEPB41L3
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3140456
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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